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Article: Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification

TitleSingleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification
Authors
KeywordsHuntington disease
live birth
PGD
whole genome amplification
Issue Date2009
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/fertnstert
Citation
Fertility And Sterility, 2009, v. 92 n. 2, p. 828.e7-828.e10 How to Cite?
AbstractObjective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit. Patient(s): A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. Intervention(s): Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos. Main Outcome Measure(s): Live birth. Result(s): In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3′-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis. Conclusion(s): Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease. © 2009 American Society for Reproductive Medicine.
Persistent Identifierhttp://hdl.handle.net/10722/125547
ISSN
2015 Impact Factor: 4.426
2015 SCImago Journal Rankings: 2.156
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChow, JFCen_HK
dc.contributor.authorYeung, WSBen_HK
dc.contributor.authorLau, EYLen_HK
dc.contributor.authorLam, STSen_HK
dc.contributor.authorTong, Ten_HK
dc.contributor.authorNg, EHYen_HK
dc.contributor.authorHo, PCen_HK
dc.date.accessioned2010-10-31T11:37:35Z-
dc.date.available2010-10-31T11:37:35Z-
dc.date.issued2009en_HK
dc.identifier.citationFertility And Sterility, 2009, v. 92 n. 2, p. 828.e7-828.e10en_HK
dc.identifier.issn0015-0282en_HK
dc.identifier.urihttp://hdl.handle.net/10722/125547-
dc.description.abstractObjective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit. Patient(s): A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele. Intervention(s): Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos. Main Outcome Measure(s): Live birth. Result(s): In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3′-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis. Conclusion(s): Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease. © 2009 American Society for Reproductive Medicine.en_HK
dc.languageengen_HK
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/fertnsterten_HK
dc.relation.ispartofFertility and Sterilityen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectHuntington diseaseen_HK
dc.subjectlive birthen_HK
dc.subjectPGDen_HK
dc.subjectwhole genome amplificationen_HK
dc.titleSingleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplificationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0015-0282&volume=92&issue=2&spage=828.e7&epage=828.e10&date=2009&atitle=Singleton+birth+after+preimplantation+genetic+diagnosis+for+Huntington+disease+using+whole+genome+amplificationen_HK
dc.identifier.emailYeung, WSB:wsbyeung@hkucc.hku.hken_HK
dc.identifier.emailNg, EHY:nghye@hkucc.hku.hken_HK
dc.identifier.emailHo, PC:pcho@hku.hken_HK
dc.identifier.authorityYeung, WSB=rp00331en_HK
dc.identifier.authorityNg, EHY=rp00426en_HK
dc.identifier.authorityHo, PC=rp00325en_HK
dc.description.naturepostprint-
dc.identifier.doi10.1016/j.fertnstert.2009.05.007en_HK
dc.identifier.pmid19515365-
dc.identifier.scopuseid_2-s2.0-67651098959en_HK
dc.identifier.hkuros181342en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67651098959&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume92en_HK
dc.identifier.issue2en_HK
dc.identifier.spage828.e7en_HK
dc.identifier.epage828.e10en_HK
dc.identifier.isiWOS:000283282400003-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChow, JFC=7401728953en_HK
dc.identifier.scopusauthoridYeung, WSB=7102370745en_HK
dc.identifier.scopusauthoridLau, EYL=7103086093en_HK
dc.identifier.scopusauthoridLam, STS=7402279428en_HK
dc.identifier.scopusauthoridTong, T=8648362100en_HK
dc.identifier.scopusauthoridNg, EHY=35238184300en_HK
dc.identifier.scopusauthoridHo, PC=7402211440en_HK
dc.identifier.citeulike5058035-

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